Genetic and Chromosomal Anomalies

Question 1

A molecule that carries the genetic information for the development and functioning of an organism.

Answer 1

Deoxyribonucleic Acid (DNA)

Question 2

A pair of genes present at a specific locus

Answer 2

Alleles

Question 3

A condition where the paired genes are similar on homologous chromosomes for a character.

Answer 3

Homozygous

Question 4

A condition where the paired genes are not similar on homologous chromosomes for a character.

Answer 4

Heterozygous

Question 5

It carries two different alleles at a particular genetic position or locus

Answer 5

Hybrid organism

Question 6

A gene that expresses itself in the presence of a contrasting gene

Answer 6

Dominant gene

Question 7

A gene that fails to express itself in the presence of a dominant gene

Answer 7

Recessive gene

Question 8

The three (3) classifications of genetic disorders

Answer 8

Cytogenetic disorders, Mendelian disorders, Multifactorial disorders

Question 9

Types of Mendelian Disorders

Answer 9

Autosomal Dominant, Autosomal Recessive, Sex-linked

Question 10

If a trait or disease manifests itself when the affected person carries only one copy of the gene responsible, along with one normal allele

Answer 10

Dominant mode of inheritance

Question 11

If two copies of the defective gene are required for the expression of the trait

Answer 11

Recessive mode of inheritance

Question 12

Affected people are heterozygous for the abnormal allele and transmit the gene for the disease to half their offspring

Answer 12

Autosomal Dominant

Question 13

Abnormal gene remains suppressed and does not manifest in a heterozygous individual. The affected person is homozygous for the trait.

Answer 13

Autosomal Recessive

Question 14

The gene is located on the X chromosome, but the gene acts in a dominant manner.

Answer 14

X-Linked Dominant

Question 15

This absence of male-to-male transmission is a hallmark of

Answer 15

X-Linked Recessive

Question 16

Refers to inheritance of a phenotypic characteristic (trait) that is attributable to two or more genes and their interaction with the environment.

Answer 16

Multifactorial inheritance

Question 17

Numerical changes are also known as

Answer 17

Ploidy changes

Question 18

Numerical changes bring about abnormal alterations in the karyotype which causes serious

Answer 18

Genetic Disorders

Question 19

Extra chromosome sets

Answer 19

Polyploidy

Question 20

Extra or missing chromosome

Answer 20

Aneuploidy

Question 21

One chromosome is absent

Answer 21

Monosomy

Question 22

An extra chromosome is present

Answer 22

Trisomy

Question 23

Part of a chromosome is missing

Answer 23

Deletion

Question 24

Part of chromosome is present twice

Answer 24

Duplication

Question 25

Two chromosomes join long arms or exchange parts

Answer 25

Translocation

Question 26

Segment of chromosome is reversed

Answer 26

Inversion

Question 27

Chromosome with identical arms

Answer 27

Isochromosome

Question 28

A chromosome that forms a ring due to deletions in telomeres, which causes to adhere

Answer 28

Ring chromosome

Question 29

It is caused by sex chromosomal monosomy, absence of X chromosome (XO syndrome)

Answer 29

Turner's Syndrome

Question 30

Turner's Syndrome is also known as

Answer 30

Ovarian dysgenesis

Question 31

Turner's Syndrome can be caused by

Answer 31

Lack of Barr body Missing only a part of X chromosome

Question 32

Adult conditions that may develop from Turner's Syndrome

Answer 32

Osteoporosis Diabetes (type 1 and 2) Colon Cancer

Question 33

Caused by an extra X chromosome

Answer 33

Klinefelter's Syndrome

Question 34

Another name for Trisomy 13

Answer 34

Patau Syndrome Trisomy D

Question 35

Cause of Trisomy 13

Answer 35

Extra chromosome 13 Robertsonian Translocation

Question 36

Another name for Trisomy 18

Answer 36

Trisomy E Edward Syndrome

Question 37

Another name for Trisomy 21

Answer 37

Down Syndrome

Question 38

Average IQ of children with Down Syndrome

Answer 38

50

Question 39

Deletion of parts of a non-sex chromosome

Answer 39

Autosomal deletion

Question 40

Another name for Cri Du Chat

Answer 40

Lejeune's Syndrome 5p deletion syndrome

Question 41

A rare genetic condition that affects your child’s metabolism and causes changes to their body and behavior.

Answer 41

Prader-Willi Syndrome

Question 42

What conditions may arise from Prader-Willi Syndrome

Answer 42

Obesity-related cardiovascular problems Sleep apnea Diabetes

Question 43

The causes of genetic change to chromosome 15

Answer 43

Chromosomal Deletion (70%) Maternal uniparental disomy (25%) Translocation (< 1%)